Varaico: Literature-Extracted Genetic Variants

Gene:PRKRA
Variant:p.Y42Y
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PRKRA

NM_003690.5:p.Y42Y

Associated Papers

Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.

Casper C et al.

Current Neuropharmacology, 2013

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

Seibler P et al.

The Lancet. Neurology, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."